Product Details

SNP ID
rs200817820
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:146339708 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCCTGCACGTCCACTTCGTCCA[C/T]CGTGCCCATCTCCCACCCAGCTGCG
Phenotype
MIM: 602460
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
POU4F3 PubMed Links

Gene Details

Gene
POU4F3
Gene Name
POU class 4 homeobox 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002700.2 370 Missense Mutation ACC,ATC T94I NP_002691.1

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